Canonical Allele Identifier: CA370468693
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2454161
ClinVar RCV Id: RCV003172693
COSMIC: COSM486286
MyVariant Identifiers: chr8:g.19811832C>T (hg19) chr8:g.19954321C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954321C>T , CM000670.2:g.19954321C>T GRCh38
NC_000008.10:g.19811832C>T , CM000670.1:g.19811832C>T GRCh37
NC_000008.9:g.19856112C>T NCBI36
NG_008855.1:g.20251C>T
NG_008855.2:g.57605C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.743C>T MANE Select ENSP00000497642.1:p.Ala248Val
ENST00000311322.8:c.743C>T ENSP00000309757.6:p.Ala248Val
NM_000237.2:c.743C>T NP_000228.1:p.Ala248Val
NM_000237.3:c.743C>T MANE Select NP_000228.1:p.Ala248Val
Search 100 bp 5'
Search 100 bp 3'